檢索結果 - Heather M. McLaughlin

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  1. 1
    A systematic approach to assessing the clinical significance of genetic variants

    A systematic approach to assessing the clinical significance of genetic variants 由 Hatice Duzkale, Jun Shen, Heather M. McLaughlin, Ahmed Alfares, MA Kelly, Trevor J. Pugh, BH Funke, HL Rehm, Matthew S. Lebo

    出版 2013
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  2. 2
    An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

    An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations 由 Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink, Kathy E. Miers, Susan L. Ackerman, Kevin L. Seburn, Anthony Antonellis, Robert W. Burgess

    出版 2010
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  3. 3
    Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (<i>MARS</i>) in a family with late-onset CMT2

    Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (<i>MARS</i>) in a family with late-onset CMT2 由 Michael Gonzalez, Heather M. McLaughlin, Henry Houlden, Min Guo, Yo‐Tsen Liu, Marios Hadjivassilious, Fiorella Speziani, Xiang‐Lei Yang, Anthony Antonellis, Mary M. Reilly, Stephan Züchner

    出版 2013
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  4. 4
    Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

    Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project 由 Kalotina Machini, Ozge Ceyhan‐Birsoy, Danielle R. Azzariti, Himanshu Sharma, Peter Rossetti, Lisa Mahanta, Laura Hutchinson, Heather M. McLaughlin, Robert C. Green, Matthew S. Lebo, Heidi L. Rehm

    出版 2019
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  5. 5
    Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

    Aggregate penetrance of genomic variants for actionable disorders in European and African Americans 由 Pradeep Natarajan, Nina B. Gold, Alexander G. Bick, Heather M. McLaughlin, Peter Kraft, Heidi L. Rehm, Gina M. Peloso, James G. Wilson, Adolfo Correa, Jonathan G. Seidman, Christine E. Seidman, Sekar Kathiresan, Robert C. Green

    出版 2016
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  6. 6
    A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

    A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N) 由 Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, Thomas E. Wilson, Leslie G. Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi‐Chung Lee, Marina Kennerson, Ya‐Ming Hou, Garth A. Nicholson, Anthony Antonellis

    出版 2011
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  7. 7
    TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

    TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism 由 Yoshiro Suzuki, David Chitayat, Hirotake Sawada, Matthew A. Deardorff, Heather M. McLaughlin, Amber Begtrup, Kathryn Millar, Jennifer Harrington, Karen Chong, Maian Roifman, Katheryn Grand, Makoto Tominaga, Fumio Takada, Shirley Shuster, Megumi Obara, H. Mutoh, Reiko Kushima, Gen Nishimura

    出版 2018
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  8. 8
    A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (<i>HARS</i>) Gene is Neurotoxic In Vivo

    A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (<i>HARS</i>) Gene is Neurotoxic In Vivo 由 Aimée Vester, Gisselle A. Vélez-Ruiz, Heather M. McLaughlin, NISC Comparative Sequencing Program, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Ricardo H. Roda, Kenneth H. Fischbeck, Leslie G. Biesecker, Garth A. Nicholson, Asim A. Beg, Anthony Antonellis

    出版 2012
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  9. 9
    A systematic approach to the reporting of medically relevant findings from whole genome sequencing

    A systematic approach to the reporting of medically relevant findings from whole genome sequencing 由 Heather M. McLaughlin, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Isaac S. Kohane, Joel B. Krier, William J. Lane, Denise Lautenbach, Matthew S. Lebo, Kalotina Machini, Calum A. MacRae, Danielle R. Azzariti, Michael F. Murray, Christine E. Seidman, Jason L. Vassy, Robert C. Green, Heidi L. Rehm

    出版 2014
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  10. 10
    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies 由 Karen W. Gripp, Sarah Smithson, Ingrid Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather M. McLaughlin, Lisette Leeuwen, Marleen Simon, Ellen van Binsbergen, Mary Beth Dinulos, Julie Kaplan, Anne McRae, Andrea Superti‐Furga, Jean‐Marc Good, Kerstin Kutsche

    出版 2021
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  11. 11
    The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

    The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine 由 Jason L. Vassy, Denise Lautenbach, Heather M. McLaughlin, Sek Won Kong, Kurt D. Christensen, Joel B. Krier, Isaac S. Kohane, Lindsay Z. Feuerman, Jennifer Blumenthal‐Barby, J. Scott Roberts, Lisa Soleymani Lehmann, Carolyn Y. Ho, Peter A. Ubel, Calum A. MacRae, Christine E. Seidman, Michael F. Murray, Amy L. McGuire, Heidi L. Rehm, Robert C. Green

    出版 2014
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  12. 12
    Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

    Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy 由 Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu, Takao Igarashi, Davut Pehli̇van, Kristine Chu, Ram Iyer, Pedro Cruz, Praveen F. Cherukuri, Nancy F. Hansen, James C. Mullikin, Leslie G. Biesecker, Thomas E. Wilson, Victor Ionâşescu, Garth A. Nicholson, Charles Searby, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Kinga Szigeti, James R. Lupski, Ya‐Ming Hou, Eric D. Green, Anthony Antonellis

    出版 2010
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  13. 13
    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy 由 Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín‐Hernández, María J. Guillen Sacoto, Lindsay B. Henderson, Heather M. McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

    出版 2018
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  14. 14
    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium 由 Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Gregory M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carolyn Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph S Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm

    出版 2016
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  15. 15
    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium 由 Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Gregory M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carolyn Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljević, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph S Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm

    出版 2016
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  16. 16
    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder 由 Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    出版 2018
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  17. 17
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders 由 Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

    出版 2018
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  18. 18
    A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

    A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories 由 Julianne O’Daniel, Heather M. McLaughlin, Laura M. Amendola, Sherri J. Bale, Jonathan S. Berg, David Bick, Kevin M. Bowling, Elizabeth Chao, Wendy K. Chung, Laura K. Conlin, Gregory M. Cooper, Soma Das, Joshua L. Deignan, Michael O. Dorschner, James P. Evans, Arezou A. Ghazani, Katrina A.B. Goddard, Michele C. Gornick, Kelly D. Farwell Hagman, Tina Hambuch, Madhuri Hegde, Lucia A. Hindorff, Ingrid A. Holm, Gail P. Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E. Plon, Sumit Punj, C. Sue Richards, Avni Santani, Brian H. Shirts, Nancy B. Spinner, Sha Tang, Karen E. Weck, Susan M. Wolf, Yaping Yang, Heidi L. Rehm

    出版 2016
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  19. 19
    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 由 Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban‐Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stéphanie Fox, Marjorie Withers, Stephanie Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria Alice Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard A. Lewis, Donna M. Muzny, Timothy Lotze, Eric Boerwinkle, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhaş, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski

    出版 2016
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  20. 20
    COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness 由 Saskia F. Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis Sloan, Ziming Ji, Letian Xie, Leonardo Salviati, Toby W. Hurd, Virginia Vega-Warner, Paul D. Killen, Yehoash Raphael, Shazia Ashraf, Buğsu Övünç, Dominik S. Schoeb, Heather M. McLaughlin, Rannar Airik, Christopher N. Vlangos, Rasheed Gbadegesin, Bernward Hinkes, Pawaree Saisawat, Eva Trevisson, Mara Doimo, Alberto Casarin, Vanessa Pertegato, Gianpietro Giorgi, Holger Prokisch, Agnès Rötig, Gudrun Nürnberg, Christian Becker, Su Wang, Fatih Özaltın, Rezan Topaloĝlu, Ayşı̇n Bakkaloğlu, Sevcan A. Bakkaloğlu, Dominik N. Müller, Antje Beissert, Sevgı Mır, Afig Berdelı, Seza πzen, Martin Zenker, Verena Matejas, Carlos Santos–Ocaña, Plácido Navas, Takehiro Kusakabe, Andreas Kispert, Sema Akman, Neveen A. Soliman, Stefanie Krick, Peter Mündel, Jochen Reiser, Peter Nürnberg, Catherine F. Clarke, Roger C. Wiggins, Christian Faul, Friedhelm Hildebrandt

    出版 2011
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